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CITATION
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Kamil Slowikowski, Xinli Hu, and Soumya Raychaudhuri. "SNPsea: an algorithm to
identify cell types, tissues and pathways affected by risk loci."
Bioinformatics (2014) 30 (17): 2496-2497.
Web
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http://bioinformatics.oxfordjournals.org/content/30/17/2496.full
doi:10.1093/bioinformatics/btu326
BibTeX
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@article{Slowikowski2014,
author = {Slowikowski, Kamil and Hu, Xinli and Raychaudhuri, Soumya},
title = {SNPsea: an algorithm to identify cell types, tissues and pathways
affected by risk loci},
volume = {30},
number = {17},
pages = {2496-2497},
year = {2014},
doi = {10.1093/bioinformatics/btu326},
abstract = {Summary: We created a fast, robust and general C++
implementation of a single-nucleotide polymorphism (SNP) set
enrichment algorithm to identify cell types, tissues and pathways
affected by risk loci. It tests trait-associated genomic loci for
enrichment of specificity to conditions (cell types, tissues and
pathways). We use a non-parametric statistical approach to compute
empirical P-values by comparison with null SNP sets. As a proof of
concept, we present novel applications of our method to four sets of
genome-wide significant SNPs associated with red blood cell count,
multiple sclerosis, celiac disease and HDL cholesterol.Availability
and implementation: http://broadinstitute.org/mpg/snpseaContact:
[email protected] information: Supplementary data
are available at Bioinformatics online.},
URL = {http://bioinformatics.oxfordjournals.org/content/30/17/2496.abstract},
eprint = {http://bioinformatics.oxfordjournals.org/content/30/17/2496.full.pdf+html},
journal = {Bioinformatics}
}